Publications by authors named "Robert Steinfeld"

42Publications

Monogenic variants in dystonia: an exome-wide sequencing study.

Authors:
Michael Zech Robert Jech Sylvia Boesch Matej Škorvánek Sandrina Weber Matias Wagner Chen Zhao Angela Jochim Ján Necpál Yasemin Dincer Katharina Vill Felix Distelmaier Malgorzata Stoklosa Martin Krenn Stephan Grunwald Tobias Bock-Bierbaum Anna Fečíková Petra Havránková Jan Roth Iva Příhodová Miriam Adamovičová Olga Ulmanová Karel Bechyně Pavlína Danhofer Branislav Veselý Vladimír Haň Petra Pavelekova Zuzana Gdovinová Tobias Mantel Tobias Meindl Alexandra Sitzberger Sebastian Schröder Astrid Blaschek Timo Roser Michaela V Bonfert Edda Haberlandt Barbara Plecko Birgit Leineweber Steffen Berweck Thomas Herberhold Berthold Langguth Jana Švantnerová Michal Minár Gonzalo Alonso Ramos-Rivera Monica H Wojcik Sander Pajusalu Katrin Õunap Ulrich A Schatz Laura Pölsler Ivan Milenkovic Franco Laccone Veronika Pilshofer Roberto Colombo Steffi Patzer Arcangela Iuso Julia Vera Monica Troncoso Fang Fang Holger Prokisch Friederike Wilbert Matthias Eckenweiler Elisabeth Graf Dominik S Westphal Korbinian M Riedhammer Theresa Brunet Bader Alhaddad Riccardo Berutti Tim M Strom Martin Hecht Matthias Baumann Marc Wolf Aida Telegrafi Richard E Person Francisca Millan Zamora Lindsay B Henderson David Weise Thomas Musacchio Jens Volkmann Anna Szuto Jessica Becker Kirsten Cremer Thomas Sycha Fritz Zimprich Verena Kraus Christine Makowski Pedro Gonzalez-Alegre Tanya M Bardakjian Laurie J Ozelius Annalisa Vetro Renzo Guerrini Esther Maier Ingo Borggraefe Alice Kuster Saskia B Wortmann Annette Hackenberg Robert Steinfeld Birgit Assmann Christian Staufner Thomas Opladen Evžen Růžička Ronald D Cohn David Dyment Wendy K Chung Hartmut Engels Andres Ceballos-Baumann Rafal Ploski Oliver Daumke Bernhard Haslinger Volker Mall Konrad Oexle Juliane Winkelmann

Lancet Neurol 2020 11;19(11):908-918

Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany; Lehrstuhl für Neurogenetik, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(20)30312-4DOI Listing
November 2020

loss of function variants contribute to cerebral folate deficiency by downregulating expression.

J Med Genet 2020 Aug 20. Epub 2020 Aug 20.

Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas, USA

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http://dx.doi.org/10.1136/jmedgenet-2020-106987DOI Listing
August 2020

CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.

Neurology 2020 06 18;94(22):e2290-e2301. Epub 2020 May 18.

From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000009523DOI Listing
June 2020

Pontocerebellar Hypoplasia: a Pattern Recognition Approach.

Cerebellum 2020 Aug;19(4):569-582

Department of Pediatric Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s12311-020-01135-5DOI Listing
August 2020

Folate Receptor α-Modified Nanoparticles for Targeting of the Central Nervous System.

ACS Appl Mater Interfaces 2019 Oct 22;11(43):39633-39647. Epub 2019 Oct 22.

Laboratory of Pharmaceutical Nanomaterials Science, Department of Materials Science and Engineering , Technion-Israel Institute of Technology , 3200003 Haifa , Israel.

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http://dx.doi.org/10.1021/acsami.9b14659DOI Listing
October 2019

Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases.

Elife 2019 02 18;8. Epub 2019 Feb 18.

Institute of Cellular Biochemistry, University Medical Center Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.7554/eLife.39598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379092PMC
February 2019

Cathepsin D Polymorphism C224T in Childhood-Onset Neurodegenerative Disorders: No Impact for Childhood Dementia.

J Pediatr Genet 2018 Mar 25;7(1):14-18. Epub 2017 Oct 25.

Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg August University Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1055/s-0037-1607341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809166PMC
March 2018

Congenital CLN disease in two siblings.

Wien Med Wochenschr 2015 May 10;165(9-10):210-3. Epub 2015 Jun 10.

Department of Pediatrics and Neonatology (Neonatal Intensive Care Unit), University Children´s Hospital of Saarland/Saarland University Hospitals, Building 9, 66421, Homburg, Germany,

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http://link.springer.com/content/pdf/10.1007/s10354-015-0359
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http://link.springer.com/10.1007/s10354-015-0359-4
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http://dx.doi.org/10.1007/s10354-015-0359-4DOI Listing
May 2015

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.

Pediatr Blood Cancer 2015 Jun 11;62(6):1091-4. Epub 2014 Dec 11.

Department of Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1002/pbc.25364DOI Listing
June 2015

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

Acta Crystallogr D Biol Crystallogr 2014 May 30;70(Pt 5):1321-35. Epub 2014 Apr 30.

Department of Neuropediatrics, Faculty of Medicine, University of Göttingen, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1107/S1399004714002739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014121PMC
May 2014

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Neurology 2014 Mar 12;82(11):945-55. Epub 2014 Feb 12.

From the Department of Pediatrics and Adolescent Medicine (H.R., A.O., P.H., L.S., R.S., J.G., K.B.), Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University; Department of Pediatrics (M.B.), Hospital Dritter Orden, Munich, Germany; Departments of Pediatric Neurology (I.C.), Hospital Maria Pia do Centro Hospitalar do Porto, Portugal; 4IRCCS Stella Maris (S.F.), Calambrone, Pisa; Department of Clinical and Experimental Medicine (S.F.), University of Pisa, Italy; Neurogenetics Unit (C.M.L.), Department of Neurology, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil; and Children's Hospital of Eastern Ontario (S.S.), Ottawa, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000000212DOI Listing
March 2014

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.

Orphanet J Rare Dis 2014 Feb 5;9:18. Epub 2014 Feb 5.

Department of Paediatric Neurology and Developmental Medicine, University Children's Hospital, Hoppe-Seyler-Strasse 1, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1186/1750-1172-9-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922034PMC
February 2014

Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma.

Nat Commun 2013 ;4:2123

Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1038/ncomms3123DOI Listing
December 2013

Lysosome-mediated apoptosis is associated with cathepsin D-specific processing of bid at Phe24, Trp48, and Phe183.

Ann Clin Lab Sci 2012 ;42(3):231-42

Experimental Pathology, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linkoping University, Sweden.

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http://www.annclinlabsci.org/content/42/3/231.full.pdf
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February 2013

Structure and activity of the only human RNase T2.

Nucleic Acids Res 2012 Sep 26;40(17):8733-42. Epub 2012 Jun 26.

Department of Structural Chemistry, University of Göttingen, 37075 Göttingen, Germany.

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http://dx.doi.org/10.1093/nar/gks614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458558PMC
September 2012

Cerebral folate deficiency: a neurometabolic syndrome?

Mol Genet Metab 2011 Nov 14;104(3):369-72. Epub 2011 Jun 14.

Department of Pediatrics, University Hospital RWTH Aachen, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.004DOI Listing
November 2011

Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course.

J Inherit Metab Dis 2011 Oct 23;34(5):1095-102. Epub 2011 Jun 23.

Department of Pediatric Neurology & Developmental Medicine and Experimental Pediatric Neuroimaging, University Children's Hospital, Hoppe-Seyler-Strasse 1, 72076, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10545-011-9361-1DOI Listing
October 2011

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

J Biol Chem 2009 Feb 26;284(6):3976-84. Epub 2008 Nov 26.

Department of Structural Chemistry, University of Göttingen, Tammannstrasse 4, 34077 Göttingen, Germany.

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http://dx.doi.org/10.1074/jbc.M806947200DOI Listing
February 2009

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

Hum Mutat 2008 Jan;29(1):205

Department of Pediatrics and Pediatric Neurology, Georg August University Göttingen, Göttingen, Germany.

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http://doi.wiley.com/10.1002/humu.9515
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http://dx.doi.org/10.1002/humu.9515DOI Listing
January 2008

Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates.

J Histochem Cytochem 2006 Sep 16;54(9):991-6. Epub 2006 Jun 16.

Department of Pediatrics and Pediatric Neurology, University of Göttingen, Germany.

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http://dx.doi.org/10.1369/jhc.5A6900.2006DOI Listing
September 2006

Cathepsin D deficiency is associated with a human neurodegenerative disorder.

Am J Hum Genet 2006 Jun 29;78(6):988-98. Epub 2006 Mar 29.

Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297076392
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http://dx.doi.org/10.1086/504159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474096PMC
June 2006

Conversion and validation of the Teen-Addiction Severity Index (T-ASI) for Internet and automated-telephone self-report administration.

Psychol Addict Behav 2005 Mar;19(1):54-61

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1037/0893-164X.19.1.54DOI Listing
March 2005

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.

Hum Mol Genet 2004 Oct 18;13(20):2483-91. Epub 2004 Aug 18.

Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1093/hmg/ddh264DOI Listing
October 2004

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.

Glycobiology 2004 Apr 21;14(4):1C-5C. Epub 2004 Jan 21.

Department of Biochemistry, Children's Hospital, University Hospital Hamburg Eppendorf, Germany.

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https://academic.oup.com/glycob/article-lookup/doi/10.1093/g
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http://dx.doi.org/10.1093/glycob/cwh054DOI Listing
April 2004

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

Clin Chem 2003 Mar;49(3):509-11

Department of Pediatrics, Metabolic Laboratory, University of Hamburg, Germany.

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http://dx.doi.org/10.1373/49.3.509DOI Listing
March 2003

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

Eur J Pediatr 2002 Jul;161(7):403-5

Department of Pediatrics, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany.

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http://link.springer.com/content/pdf/10.1007/s00431-002-0966
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http://dx.doi.org/10.1007/s00431-002-0966-0DOI Listing
July 2002